Looking for some peace of mind

[Aed312]

My father is the eldest of 3 brothers. My youngest uncle passed from ALS around age 48 after developing symptoms two years prior. It was an awful experience for everyone involved and heart wrenching.

My other uncle has been going into cognitive decline for the past 3 years (starting around age 57). His family recently took him to the neurologist and he was diagnosed with FTD and I believe ALS is starting to show now.

Once I heard this I knew it must be genetic as the odds of it happening twice is so unlikely. It’s all very new and I’ve wanted to give his immediate family time to come to terms so I haven’t discussed, but my sister talked to my cousin and I believe he was diagnosed with C9orf72.

No one else in our family aside from my two uncles have been confirmed positive. My grandfather passed at age 78 but did develop bad dementia which probably really started showing around age 70/71. My grandmother is still alive and healthy in her 80s. I asked about other family and was told no one ever showed any signs but we did have relatives generations before pass early from heart issues.

My father is 63 and currently 6 years older than my uncle was when he first started showing systems. He’s healthy and sharp as ever with zero symptoms. At first he didn’t want to get tested - but once my siblings and I got him on the phone and explained since we’re all beginning to start our own families and that we must know, he did agree.

I know he will have to be slowly badgered until he goes and gets the test (he will eventually-but he lives on the other side of the country and we will have to be persistent).

We don’t want to get tested before him because of the insurance implications that can arise if we do test positive.

Since this all came to light I am having the worst anxiety imaginable. It’s all I can think about. Any slight cramp, tingle, stumble, or stutter just makes me think could be a symptom. I’m only 33 and I know even if I have the gene it’s unlikely to show yet…but I don’t know how I can get by with waiting for my father to actually get his results.

Just looking for some slight reassurance in all this? I know the 50/50 chances of it being passed down…is it fair to assume since my father is 16 years older than when our first uncle showed symptoms / 6 years older than my current uncle he is likely to be in the clear? Would the fact that we don’t have a large history of family members showing signs of this disease mean it maybe isn’t as prevalent?

I feel selfish posting here when so many are actually going through this-but it’s just crushing me right now.

Thanks

 

[Nikki J]

It is of course encouraging that your father is fine. If he does not carry the mutation then you and your siblings do not. I suggest you encourage him to contact light the way who can get him tested and provide counseling free.

It is also true that c9 penetrance varies and the best way to estimate is to look at your family history so only having two relatives is more positive than if your family tree was full of cases over generations. We now know there are some families where most carriers live normal lives

If you are having a difficult time dealing then talk to your pcp about counseling and possibly medication. Even if your father gets tested right away it will take time to get results

 

[Aed312]

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Even before this news I was having some issues in my thumb I noticed. I am double jointed in both hands and can somewhat "pop" my thumb out at the socket (if that matters). My right thumb on the topside of my hand at the base/bottom where the joint is has been sore/feeling slightly "fatigued". It's more evident when I "pop" out my double joint. It feels a little weak but that could be in my head. I have had no failure of any kind...can write with a pen, button my shirt, do a pincer hand etc. If I poke/prod the spot I can feel where it is sore. Also I have been experiencing thumb shaking/quivering when I extend my thumb or specifically when I am using my phone. I have the same shaking/quivering in my left thumb...it's not nearly as sore as the right but I have noticed it a little there. I even got a CNS index finger tap app which I have tracked daily which looks fine.

Of course now I am googling "ALS thumb" and coming across information about split hand and it's all I can think about. It's causing me a lot of anxiety.

Would any of what I mentioned point to that issue? Is having soreness before any failure/clinical weakness of any kind possible? Would the shakes i'm having be a symptom? It's not a twitch just a light clearly evident finger shake. I have no visible sign of muscle loss in that area that I can tell.

Hoping it's just a poorly timed symptom of thumb arthritis or something...

Thanks so much

 

[lgelb]

Please stay in this thread.

It's rarely a good idea to purposely "pop out" a joint, which puts wear and tear on the ligaments. Many people have weak or overstrained thumbs from texting, gaming, and other repetitive motion, which can also cause soreness. They also go through more trauma (being jostled, leaned or sat on, etc.) than other digits, typically.

I recommend you trash the app and give your thumbs more breaks.

 

[Aed312]

Thank you. My concern is I’ve never had this happen before. I’ve read here that if usually feeling “soreness” wouldn’t point to als and most likely would also have “failure” first and foremost. Is this accurate?

Thanks a bunch

 

[lgelb]

That is true. ALS is a disease of the motor neurons, that control movement, and have nothing to do with soreness.

 

[ShiftKicker]

You may find this link informative: Read Before Posting. It answers the question- failure is the hallmark symptom of ALS. Pain is sensory.